Varaico: Literature-Extracted Genetic Variants

NAGS

107 papers

RefSeq Summary

The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate...

Pfam Domains

AA_kinaseaa 113–327UCSCAmino acid kinase family

NATaa 356–521UCSCNAT, N-acetyltransferase, of N-acetylglutamate synthase

Gene Aliases

HGNC Name

N-acetylglutamate synthase

HGNC Alias Symbols

AGAS; ARGA; NAT7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_153006.3

p.T439S

c.1315A>T

Surrounding Variants

1 paper

NM_153006.3

p.T439fs

c.1315_1316fs

4 papers

NM_153006.3

p.T439fs

c.1315_1316fs

2 papers

NM_153006.3

p.G438G

c.1314C>T

2 papers

NM_153006.3

p.T439T

c.1317C>A

2 papers

NM_153006.3

p.T439T

c.1317C>T

2 papers

NM_153006.3

p.G438D

c.1313G>A

2 papers

NM_153006.3

p.P440A

c.1318C>G

1 paper

NM_153006.3

p.G438S

c.1312G>A

1 paper

NM_153006.3

p.G438R

c.1312G>C

3 papers

NM_153006.3

p.G438fs

c.1312_1313fs

1 paper

NM_153006.3

p.P440L

c.1319C>T

1 paper

NM_153006.3

p.G437G

c.1311G>A